F13L (p.Phe13Leu) variant of RYR2 (Ryanodine receptor 2)
F13L (p.Phe13Leu) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- rs1660038687
- ClinGen CA345654219
- ClinVar RCV001508968
- ClinVar RCV002544636
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- MetaLR 0.89
- MetaSVM 0.83
- CADD 25.80
- PolyPhen-2 0.50
- SIFT 0.08
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)